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ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3)

Identity

Alias_namesDYT12
dystonia 12
ATPase, Na?? transporting, alpha 3 polypeptide
Other aliasAHC2
ATP1A1
CAPOS
RDP
HGNC (Hugo) ATP1A3
LocusID (NCBI) 478
Atlas_Id 52224
Location 19q13.2  [Link to chromosome band 19q13]
Location_base_pair Starts at 41966582 and ends at 41993467 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ATP1A3 (19q13.2) / CNBP (3q21.3)ATP1A3 (19q13.2) / SOX4 (6p22.3)HKR1 (19q13.12) / ATP1A3 (19q13.2)
LRP1B (2q22.1) / ATP1A3 (19q13.2)NDUFS2 (1q23.3) / ATP1A3 (19q13.2)HKR1 19q13.12 / ATP1A3 19q13.2

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)ATP1A3   801
Cards
Entrez_Gene (NCBI)ATP1A3  478  ATPase Na+/K+ transporting subunit alpha 3
AliasesAHC2; ATP1A1; CAPOS; DYT12; 
RDP
GeneCards (Weizmann)ATP1A3
Ensembl hg19 (Hinxton)ENSG00000105409 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000105409 [Gene_View]  chr19:41966582-41993467 [Contig_View]  ATP1A3 [Vega]
ICGC DataPortalENSG00000105409
TCGA cBioPortalATP1A3
AceView (NCBI)ATP1A3
Genatlas (Paris)ATP1A3
WikiGenes478
SOURCE (Princeton)ATP1A3
Genetics Home Reference (NIH)ATP1A3
Genomic and cartography
GoldenPath hg38 (UCSC)ATP1A3  -     chr19:41966582-41993467 -  19q13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ATP1A3  -     19q13.2   [Description]    (hg19-Feb_2009)
EnsemblATP1A3 - 19q13.2 [CytoView hg19]  ATP1A3 - 19q13.2 [CytoView hg38]
Mapping of homologs : NCBIATP1A3 [Mapview hg19]  ATP1A3 [Mapview hg38]
OMIM128235   182350   601338   614820   
Gene and transcription
Genbank (Entrez)AK054736 AK094628 AK122693 AK223569 AK293784
RefSeq transcript (Entrez)NM_001256213 NM_001256214 NM_152296
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ATP1A3
Cluster EST : UnigeneHs.515427 [ NCBI ]
CGAP (NCI)Hs.515427
Alternative Splicing GalleryENSG00000105409
Gene ExpressionATP1A3 [ NCBI-GEO ]   ATP1A3 [ EBI - ARRAY_EXPRESS ]   ATP1A3 [ SEEK ]   ATP1A3 [ MEM ]
Gene Expression Viewer (FireBrowse)ATP1A3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)478
GTEX Portal (Tissue expression)ATP1A3
Protein : pattern, domain, 3D structure
UniProt/SwissProtP13637   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP13637  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP13637
Splice isoforms : SwissVarP13637
Catalytic activity : Enzyme3.6.3.9 [ Enzyme-Expasy ]   3.6.3.93.6.3.9 [ IntEnz-EBI ]   3.6.3.9 [ BRENDA ]   3.6.3.9 [ KEGG ]   
PhosPhoSitePlusP13637
Domaine pattern : Prosite (Expaxy)ATPASE_E1_E2 (PS00154)   
Domains : Interpro (EBI)ATPase_P-typ_cation-transptr_C    ATPase_P-typ_cation-transptr_N    ATPase_P-typ_cyto_domN    ATPase_P-typ_P_site    ATPase_P-typ_TM_dom    ATPase_P-typ_transduc_dom_A    HAD-like_dom    P-type_ATPase_IIC    P_typ_ATPase   
Domain families : Pfam (Sanger)Cation_ATPase_C (PF00689)    Cation_ATPase_N (PF00690)    E1-E2_ATPase (PF00122)   
Domain families : Pfam (NCBI)pfam00689    pfam00690    pfam00122   
Domain families : Smart (EMBL)Cation_ATPase_N (SM00831)  
Conserved Domain (NCBI)ATP1A3
DMDM Disease mutations478
Blocks (Seattle)ATP1A3
SuperfamilyP13637
Human Protein AtlasENSG00000105409
Peptide AtlasP13637
HPRD01666
IPIIPI00302840   IPI00790327   IPI00647099   IPI01014826   IPI00788782   
Protein Interaction databases
DIP (DOE-UCLA)P13637
IntAct (EBI)P13637
FunCoupENSG00000105409
BioGRIDATP1A3
STRING (EMBL)ATP1A3
ZODIACATP1A3
Ontologies - Pathways
QuickGOP13637
Ontology : AmiGObeta-amyloid binding  sodium:potassium-exchanging ATPase activity  sodium:potassium-exchanging ATPase activity  sodium:potassium-exchanging ATPase activity  ATP binding  nucleus  endoplasmic reticulum  Golgi apparatus  plasma membrane  plasma membrane  sodium:potassium-exchanging ATPase complex  sodium:potassium-exchanging ATPase complex  sodium:potassium-exchanging ATPase complex  cellular sodium ion homeostasis  memory  adult locomotory behavior  visual learning  potassium ion import  establishment or maintenance of transmembrane electrochemical gradient  membrane  integral component of membrane  cerebral cortex development  cellular potassium ion homeostasis  axon  D1 dopamine receptor binding  neuronal cell body membrane  ion transmembrane transport  ionotropic glutamate receptor signaling pathway  sodium ion export from cell  sarcolemma  response to drug  neuronal cell body  myelin sheath  heparan sulfate proteoglycan binding  dendritic spine neck  dendritic spine head  synapse  metal ion binding  chaperone binding  cardiac muscle contraction  regulation of resting membrane potential  cellular response to retinoic acid  cellular response to steroid hormone stimulus  regulation of cardiac muscle cell membrane potential  sodium:potassium-exchanging ATPase activity involved in regulation of cardiac muscle cell membrane potential  cell communication by electrical coupling involved in cardiac conduction  ATP hydrolysis coupled transmembrane transport  cellular response to thyroid hormone stimulus  response to glycoside  extracellular vesicle  regulation of cardiac conduction  steroid hormone binding  
Ontology : EGO-EBIbeta-amyloid binding  sodium:potassium-exchanging ATPase activity  sodium:potassium-exchanging ATPase activity  sodium:potassium-exchanging ATPase activity  ATP binding  nucleus  endoplasmic reticulum  Golgi apparatus  plasma membrane  plasma membrane  sodium:potassium-exchanging ATPase complex  sodium:potassium-exchanging ATPase complex  sodium:potassium-exchanging ATPase complex  cellular sodium ion homeostasis  memory  adult locomotory behavior  visual learning  potassium ion import  establishment or maintenance of transmembrane electrochemical gradient  membrane  integral component of membrane  cerebral cortex development  cellular potassium ion homeostasis  axon  D1 dopamine receptor binding  neuronal cell body membrane  ion transmembrane transport  ionotropic glutamate receptor signaling pathway  sodium ion export from cell  sarcolemma  response to drug  neuronal cell body  myelin sheath  heparan sulfate proteoglycan binding  dendritic spine neck  dendritic spine head  synapse  metal ion binding  chaperone binding  cardiac muscle contraction  regulation of resting membrane potential  cellular response to retinoic acid  cellular response to steroid hormone stimulus  regulation of cardiac muscle cell membrane potential  sodium:potassium-exchanging ATPase activity involved in regulation of cardiac muscle cell membrane potential  cell communication by electrical coupling involved in cardiac conduction  ATP hydrolysis coupled transmembrane transport  cellular response to thyroid hormone stimulus  response to glycoside  extracellular vesicle  regulation of cardiac conduction  steroid hormone binding  
Pathways : KEGG   
NDEx NetworkATP1A3
Atlas of Cancer Signalling NetworkATP1A3
Wikipedia pathwaysATP1A3
Orthology - Evolution
OrthoDB478
GeneTree (enSembl)ENSG00000105409
Phylogenetic Trees/Animal Genes : TreeFamATP1A3
HOVERGENP13637
HOGENOMP13637
Homologs : HomoloGeneATP1A3
Homology/Alignments : Family Browser (UCSC)ATP1A3
Gene fusions - Rearrangements
Fusion : MitelmanHKR1/ATP1A3 [19q13.12/19q13.2]  [t(19;19)(q13;q13)]  
Fusion: TCGAHKR1 19q13.12 ATP1A3 19q13.2 OV
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATP1A3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATP1A3
dbVarATP1A3
ClinVarATP1A3
1000_GenomesATP1A3 
Exome Variant ServerATP1A3
ExAC (Exome Aggregation Consortium)ATP1A3 (select the gene name)
Genetic variants : HAPMAP478
Genomic Variants (DGV)ATP1A3 [DGVbeta]
DECIPHERATP1A3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisATP1A3 
Mutations
ICGC Data PortalATP1A3 
TCGA Data PortalATP1A3 
Broad Tumor PortalATP1A3
OASIS PortalATP1A3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICATP1A3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDATP1A3
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Mendelian genes
BioMutasearch ATP1A3
DgiDB (Drug Gene Interaction Database)ATP1A3
DoCM (Curated mutations)ATP1A3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ATP1A3 (select a term)
intoGenATP1A3
Cancer3DATP1A3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM128235    182350    601338    614820   
Orphanet748    3409    11017   
MedgenATP1A3
Genetic Testing Registry ATP1A3
NextProtP13637 [Medical]
TSGene478
GENETestsATP1A3
Target ValidationATP1A3
Huge Navigator ATP1A3 [HugePedia]
snp3D : Map Gene to Disease478
BioCentury BCIQATP1A3
ClinGenATP1A3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD478
Chemical/Pharm GKB GenePA64
Clinical trialATP1A3
Miscellaneous
canSAR (ICR)ATP1A3 (select the gene name)
Probes
Litterature
PubMed82 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineATP1A3
EVEXATP1A3
GoPubMedATP1A3
iHOPATP1A3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jun 7 12:24:50 CEST 2017

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